title: Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
mesh_terms: D017398:Alternative Splicing; D018389:Codon, Nonsense; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D009896:Optic Atrophy / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D029241:Optic Atrophy, Autosomal Dominant / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D017384:Sequence Deletion
chemical_list: D018389:Codon, Nonsense; D004247:DNA; D020558:GTP Phosphohydrolases; C415198:OPA1 protein, human